A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3387438



Internal ID14887721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16548470..16676368hg38UCSC Ensembl
Innerchr1:16549470..16675368hg38UCSC Ensembl
Outerchr1:16547470..16677368hg38UCSC Ensembl
chr1:16874965..17002863hg19UCSC Ensembl
Innerchr1:16875965..17001863hg19UCSC Ensembl
Outerchr1:16873965..17003863hg19UCSC Ensembl
chr1:16747552..16875450hg18UCSC Ensembl
Innerchr1:16748552..16874450hg18UCSC Ensembl
Outerchr1:16746552..16876450hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38127899
hg19127899
hg18127899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv49e59
Supporting Variantsessv8692034
SamplesNA12892
Known GenesCROCCP2, LOC729574, MIR3675, MST1P2, NBPF1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3387438
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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